What is hereditary hemochromatosis?
HFE-associated hemochromatosis (also known as hereditary
hemochromatosis) is an inherited condition characterized by
increased absorption of dietary iron which may lead to organ
damage, including liver cirrhosis, if left untreated.1
Not all people with hereditary hemochromatosis will develop
iron overload or associated symptoms and complications.1
Treatment is available for those who do.2,3
The most common type of hereditary hemochromatosis is
caused by a DNA variant in each copy of the HFE gene.1
People who are carriers have a variant in just 1 copy of the HFE
gene and are most likely not at increased risk for iron overload
due to HFE-associated hemochromatosis.1,2
Regardless of this result, personal and family history are
important risk factors for iron overload.1,2
What this result means for family members
HFE-associated hemochromatosis is an autosomal recessive
condition. Family members may have the same DNA variant.
The variant was most likely inherited from a parent who is at
least a carrier of HFE-associated hemochromatosis. Siblings
and other relatives may also be carriers.
People who are carriers can pass the variant on to their
children. If the carrier’s partner (or sperm/egg donor) is also a
carrier of HFE-associated hemochromatosis, then each child
they have has a 1 in 4 chance of having the condition.
People who are carriers may wish to share their test results
with family members so they may consider discussing
hereditary hemochromatosis with their healthcare provider.
Patient conversation starters:
Hereditary hemochromatosis is an inherited condition that
can cause too much iron in the blood and body. If not treated,
the iron can build up over time and can cause damage to
certain organs.
Hereditary hemochromatosis is caused by having a DNA
variant in each copy of the HFE gene.
People who have a DNA variant in only 1 copy of the HFE gene
are carriers of the condition. Carriers do not have the condition
and are unlikely to be at increased risk for iron buildup.
Patient conversation starters:
Hereditary hemochromatosis runs in families.
That means your family members may have the same DNA
variant in their HFE gene. You most likely inherited this variant
from 1 of your parents. Your siblings may also be carriers.
You may want to share this result with your family
members so they can consider talking to their doctor about
hereditary hemochromatosis.
